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Multi-tissue transcriptomics of a unique monozygotic discordant twin case of severe progressive osseous heteroplasia

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Genes & Diseases 2024年第3期11卷 22-25页

作者： Alberto Gomez-Carballa Maria Jose Curras-Tuala Sara Pischedda Miriam Cebey-Lopez Jose Gomez-Rial Irene Rivero-Cale Jacobo Pardo-seco Xabier Bello Sandra Viz-Lasheras Antonio Justicia-Grande Julian Montoto-Louzao Alba Camino-Mera isabel Ferreiros-Vidal Maximo Fraga Jose RAntunez Rodolfo Gomez Federico Martinon-Torres Antonio Salas Genetics Vaccines and Infections Research Group(GENVIP)Instituto de Investigacion Sanitaria de SantiagoSantiagode CompostelaGalicia 15706Spain Translational Pediatrics and Infectious Diseases Department of PediatricsHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Laboratorio de Inmunologia Servicio de Andlisis ClinicosHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Unidade de Xenetica Instituto de Ciencias Forenses(INCIFOR)Facultade de MedicinaUniversidade de Santiago de Compostelaand GenPoB Research GroupInstituto de Investigacion SanitariaHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Musculoskeletal Pathology Group Instituto de Investigacion Sanitaria de SantiagoServicio Galego de Saude(SERGAS)Santiago de CompostelaGalicia 15706Spain Department of Pathology Hospital Clinico Universitario de Santiago de Compostela(SERGAS)Galicia 15706Spain Unidad Integrada de BiobancosBiomodelos 3D y Modelos Animales IDIS(lnstituto de Investigacion Sanitaria de Santiagode Compostela)Galicia15706Spain Centro de Investigacion Biomedica en Red de Enfermedades Respiratorias(CIBER-ES) MadridSpain

Progressive osseous heteroplasia(POH)is an ultra-rare autosomal dominant disabling disorder characterized by heterotopic ossification(HO).It is caused by heterozygous inactivating mutations in the GNAS(guanine nucleotide-binding protein alpha-stimulating activity polypeptide)***,the molecular mechanisms underlying HO remain poorly *** a treatment for POH is not yet available,the identification of the mechanisms driving POH in affected tissues using gene expression may be of great help to underestand the molecular basis of POH and develop new therapeutic approaches.

关键词： stimulating driving asi

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Tree: Reducing the use of restrictive practices on psychiatric wards through virtual reality immersive technology training

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World Journal of Psychiatry 2024年第10期14卷 1521-1537页

作者： Peter Phiri Laura Pemberton Yang Liu Xiaojie Yang Joe Salmon isabel Boulter Sana Sajid Jackie Clarke Andy McMillan Jian Qing Shi Gayathri Delanerolle Department of Research&Innovation Southern Health National Health Service Foundation TrustSouthampton SO303JBUnited Kingdom Department of Statistics and Data Science Southern University of Science and TechnologyShenzhen 518055Guangdong ProvinceChina School of Statistics and Mathematics Yunnan University of Finance and EconomicsKunming 650221Yunnan ProvinceChina Virti Healthcare KeynshamBristol BS311SNUnited Kingdom Neuromodulation Centre Southern Health National Health Service Foundation TrustSouthampton SO140YGUnited Kingdom National Health Service Talking Therapies Southern Health National Health Service Foundation TrustSouthampton SO509FHUnited Kingdom

BACKGROUND Restrictive practices(RPs)are defined by measures linked to physical and chemical restraints to reduce the movement or control behaviours during any *** is an equal part of RPs intended to isolate and reduce the sensory stimulation to safeguard the patient and those within the *** interventions by way of virtual reality(VR)could assist with reducing the need for RPs as it could help reduce anxiety or agitation by way of placing users into realistic and immersive *** could also aid staff to and change current *** To assess the feasibility and effectiveness of using a VR platform to provide reduction in RP *** A randomised controlled feasibility study,accompanied by evaluations at 1 month and 6 months,was conducted within inpatient psychiatric wards at Southern Health National Health Service Foundation Trust,United *** VR scenarios were used on VR headsets to provide training on reducing RPs in 3 inpatient psychiatric *** measures included general self-efficacy scale,generalised anxiety disorder assessment 7(GAD-7),Burnout Assessment Tool 12,the Everyday Discrimination Scale,and the Compassionate Engagement and Action *** Findings revealed statistically significant differences between the VR and treatment as usual groups,in the Everyday Discrimination Scale items Q8 and Q9:P=0.023 and P=0.040 respectively,indicating higher levels of perceived discrimination in the VR *** were no significant differences between groups in terms of general self-efficacy,generalised anxiety disorder assessment 9,and Burnout Assessment Tool 12 scores.A significant difference was observed within the VR group for compassionate engagement from others(P=0.005)over *** respondents recorded System Usability Scale scores above 70,with an average score of *** was a significant reduction in rates of RPs in the VR group vs treatment as usual group with a fluctuating variability ob

关键词： Virtual reality Restrictive practices Inpatient wards Restraint Isolation Rapid tranquilisation Covert medication Procedural restrictions Health professions training

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Primary carbohydrate metabolism genes participate in heat-stress memory at the shoot apical meristem of Arabidopsis thaliana

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Molecular Plant 2024年第4期17卷 676-676页

作者： Justyna Jadwiga Olas Federico Apelt Maria Grazia Annunziata Sheeba John Sarah isabel Richard Saurabh Gupta Friedrich Kragler Salma Balazadeh Bernd Mueller-Roeber 不详

(Molecular Plant 14,1508-1524,September 62021)After the original publication of the above article,attentive readers identified errors in Figure 4H that needed correction as *** 4H contained the erroneous labels“10 DAP(7 DAT),”which should have each read,“7 DAP(4 DAT).”To avoid any confusion and ensure consistency across our figures,we modified some of the Col-0 images in a corrected version of Figure 4H below to resemble the exact same Col-0 images as in Figure *** details of the changes are as follows:rotation(Col-0 Primed,all timepoints;Col-0 Triggered,3 DAP and 5 DAP;Col-0 Primed/triggered,3 DAP and 5 DAP),replacement(Col-0 Triggered,7 DAP),and different cropping(Col-0 Primed/triggered,7 DAP).

关键词： Figure metabolism Prime

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乡村公共数字文化服务标准化推进机理

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图书情报研究 2024年第2期17卷 26-38页

作者：田一王锰连忻杰 Amalia isabel Rivero Chávez 江苏大学科技信息研究所镇江212013 曼萨尼约市历史档案馆古巴曼萨尼约市87510

[目的/意义]乡村公共数字文化服务在国家层面已然得到政策和法律保障,基本公共文化服务体系初具成效。本研究聚焦乡村公共数字文化服务标准化。[方法/过程]以我国三个公共文化服务体系示范区乡镇服务点的实地调研数据为依据,深入了解乡... 详细信息

[目的/意义]乡村公共数字文化服务在国家层面已然得到政策和法律保障,基本公共文化服务体系初具成效。本研究聚焦乡村公共数字文化服务标准化。[方法/过程]以我国三个公共文化服务体系示范区乡镇服务点的实地调研数据为依据,深入了解乡村公共数字文化服务标准化状况。[结果/结论]从推进主体、推进内容、推进方式三方面构建乡村公共数字文化服务标准化机制的模型,“政府驱动型”、“服务增效型”、“基础保障型”的三重应用模式为政府以标准化完善现代化公共文化服务体系提供了有效参考。

关键词：公共数字文化服务数字乡村服务标准扎根理论

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Impact of Laboratory Value Flowsheet in Electronic Health Record (EHR) Documentation Time

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Open Journal of Nursing（护理学期刊） 2024年第1期

作者： isabel Rosado Pogozelski

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Oxidized organic molecules in the tropical free troposphere over Amazonia

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National Science Review 2024年第1期11卷 174-184页

作者： Qiaozhi Zha Diego Aliaga Radovan Krejci Victoria A.Sinclair Cheng Wu Giancarlo Ciarelli Wiebke Scholz Liine Heikkinen Eva Partoll Yvette Gramlich Wei Huang Markus Leiminger Joonas Enroth Otso Per?kyl? Runlong Cai Xuemeng Chen Alkuin Maximilian Koenig Fernando Velarde isabel Moreno Tuukka Pet?j? Paulo Artaxo Paolo Laj Armin Hansel Samara Carbone Markku Kulmala Marcos Andrade Douglas Worsnop Claudia Mohr Federico Bianchi Institute for Atmospheric and Earth System Research/Physics University of Helsinki Joint International Research Laboratory of Atmospheric and Earth System Sciences Nanjing University Department of Environmental Science & Bolin Centre for Climate Research Stockholm University Department of Chemistry and Molecular Biology University of Gothenburg Institute for Ion and Applied Physics University of Innsbruck Ionicon Analytik GmbH Laboratory for Atmospheric Physics Institute for Physics Research Universidad Mayor de San Andrés Institute of Physics University of Sao Paulo Institute for Geosciences and Environmental Research (IGE) University of Grenoble Alpes Agrarian Sciences Institute Federal University of Uberl?ndia Beijing Advanced Innovation Center for Soft Matter Science and Engineering Beijing University of Chemical Technology Department of Atmospheric and Oceanic Sciences University of Maryland Aerodyne Research Inc. Department of Environmental System Science ETH Zürich Switzerland and Laboratory of Atmospheric Chemistry Paul Scherrer Institute

New particle formation(NPF) in the tropical free troposphere(FT) is a globally important source of cloud condensation nuclei, affecting cloud properties and climate. Oxidized organic molecules(OOMs)produced from biogenic volatile organic compounds are believed to contribute to aerosol formation in the tropical FT, but without direct chemical observations. We performed in situ molecular-level OOMs measurements at the Bolivian station Chacaltaya at 5240 m above sea level, on the western edge of Amazonia. For the first time, we demonstrate the presence of OOMs, mainly with 4–5 carbon atoms, in both gas-phase and particle-phase(in terms of mass contribution) measurements in tropical FT air from Amazonia. These observations, combined with air mass history analyses, indicate that the observed OOMs are linked to isoprene emitted from the rainforests hundreds of kilometers away. Based on particle-phase measurements, we find that these compounds can contribute to NPF, at least the growth of newly formed nanoparticles, in the tropical FT on a continental scale. Thus, our study is a fundamental and significant step in understanding the aerosol formation process in the tropical FT.

关键词： oxidized organic molecules tropical aerosol formation Amazon free troposphere

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Epidemiology, Clinical Features and Antifungal Resistance Profile of Candida auris in Africa: Systematic Review

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Journal of Biosciences and Medicines 2024年第1期12卷 126-149页

作者： Isidore Wendkièta Yerbanga Seydou Nakanabo Diallo Toussaint Rouamba Delwendé Florence Ouedraogo Katrien Lagrou Rita Oladele Jean-Pierre Gangneux Olivier Denis Hector Rodriguez-Villalobos isabel Montesinos Sanata Bamba Centre Hospitalier Universitaire Régional de Ouahigouya Ouahigouya Burkina Faso Ecole Doctorale des Sciences De la Santé Université Nazi Boni Bobo-Dioulasso Burkina Faso Centre Muraz/Institut National de Santé Publique Bobo-Dioulasso Burkina Faso Clinical Research Unit of Nanoro Institute for Research in Health Sciences National Center for Scientific and Technological Research Ouagadougou Burkina Faso Department of Microbiology Immunology and Transplantation KU Leuven Leuven Belgium and Department of Laboratory Medicine and National Reference Center for Mycosis Excellence Center for Medical Mycology (ECMM) University Hospitals Leuven Leuven Belgium College of Medicine University of Lagos Lagos Nigeria Univ Rennes CHU Rennes Inserm Irset (Institut de recherche en santé environnement et travail) European ECMM Excellence Center in Medical Mycology Université de Rennes Rennes France Department of Microbiology CHU Namur site-Godinne Université Catholique de Louvain Yvoir Belgium Ecole de Santé Publique Université Libre de Bruxelles Brussels Belgium Department of Microbiology Cliniques Universitaires Saint-Luc—Université Catholique de Louvain Bruxelles Belgium Centre Hospitalier Universitaire Sour? Sanou Bobo-Dioulasso Burkina Faso

Candida auris since it discovery in 2009 is becoming a severe threat to human health due to its very quickly spread, its worldwide high resistance to systemic antifungal drugs. In resource-constrained settings where several conditions are met for its emergence and spread, this worrisome fungus could cause large hospital and/or community-based outbreaks. This review aimed to summarize the available data on C. auris in Africa focusing on its epidemiology and antifungal resistance profile. Major databases were searched for articles on the epidemiology and antifungal resistance profile of C. auris in Africa. Out of 2,521 articles identified 22 met the inclusion criteria. In Africa, nearly 89% of African countries have no published data on C. auris. The prevalence of C. auris in Africa was 8.74%. The case fatality rate of C. auris infection in Africa was 39.46%. The main C. auris risk factors reported in Africa were cardiovascular disease, renal failure, diabetes, HIV, recent intake of antimicrobial drugs, ICU admissions, surgery, hemodialysis, parenteral nutrition and indwelling devices. Four phylogenetic clades were reported in Africa, namely clades I, II, III and IV. Candida auris showed a pan-African very high resistance rate to fluconazole, moderate resistance to amphotericin B, and high susceptibility to echinocandins. Finally, C. auris clade-specific mutations were observed within the ERG2, ERG3, ERG9, ERG11, FKS1, TAC1b and MRR1 genes in Africa. This systematic review showed the presence of C. auris in the African continent and a worrying unavailability of data on this resilient fungus in most African countries.

关键词： Africa Antifungal Resistance Candida auris Clinical Features Phylogenetic Clades

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Dysregulation of apoptosis in hepatocellular carcinoma cells

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World Journal of Gastroenterology 2009年第5期15卷 513-520页

作者： isabel Fabregat Institut d'Investigació Biomèdica de Bellvitge (IDIBELL) and Universitat de Barcelona 08907 L'Hospitalet Barcelona Spain

Hepatocellular carcinoma （HCC） is a major health prob- lem, being the sixth most common cancer world-wide. Dysregulation of the balance between proliferation and cell death represents a pro-tumorigenic principle in hu- man hepatocarcinogenesis. This review updates the recent relevant contributions reporting molecular altera- tions for HCC that induce an imbalance in the regulation of apoptosis. Alterations in the expression and/or activation of p53 are frequent in HCC cells, which confer on them resistance to chemotherapeutic drugs. Many HCCs are also insensitive to apoptosis induced either by death receptor ligands, such as FasL or TRAIL, or by transforming growth factor-beta （TGF-β）. Although the expression of some pro-apoptotic genes is decreased, the balance between death and survival is dysregulated in HCC mainly due to overactivation of anti-apoptotic pathways. Indeed, some molecules involved in counter- acting apoptosis, such as Bcl-X1, Mcl-1, c-IAP1, XIAP or survivin are over-expressed in HCC cells. Furthermore, some growth factors that mediate cell survival are upregulated in HCC, as well as the molecules involved in the machinery responsible for cleavage of their pro- forms to an active peptide. The expression and/or activation of the JAK/STAT, PI3K/AKT and RAS/ERKs path- ways are enhanced in many HCC cells, conferring on them resistance to apoptotic stimuli. Finally, recent evi- dence indicates that inflammatory processes, as well as the epithelial-mesenchymal transitions that occur in HCC cells to facilitate their dissemination, are related to cell survival. Therefore, therapeutic strategies to selectively inhibit anti-apoptotic signals in liver tumor cells have the potential to provide powerful tools to treat HCC.

关键词： Hepatocellular carcinoma cells Apoptosis Liver cancer p53, Transforming growth factor-beta Liver inflammation Epithelial-to-mesenchymal transition

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Effect of Polymer Inclusion in Preparation of Thick LZO Buffer Layers for YBCO Coated Conductors

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Journal of Materials Science & Technology 2013年第3期29卷 261-266页

作者： Vyshnavi Narayanan isabel Van Driessche Sol-gel Centre for Research on Inorganic Powders and Thin film Synthesis-SCRiPTS Department of Inorganic and Physical ChemistryGhent UniversityKrijgslaan 281-S3B-9000 GentBelgium

In this work, water-based precursor solutions suitable for dip-coating of thick La2Zr2O7 （LZO） buffer layers for coated conductors on Ni-5%W substrates with an inclusion of polymeric polyvinyl pyrrolidone were developed. The effect of varying percentage of the polymer addition on the preparation of the deposited films with maximum crack-free thickness was investigated. This novel water-based chemical solution deposition method involving polymers in two different chelate-chemistry compositions revealed the possibility to grow single, crack-free layers with thicknesses ranging from 140 to 280 nm, with good crystallinity and epitaxial growth. The effect of increasing polymer concentrations on the morphology and the structure of the films was studied. The appropriate buffer layer action of the films in preventing Ni diffusion was studied by X-ray photoelectron spectroscopy.

关键词： Buffer layers Thick lanthanum zirconate films Chemical solution deposition Polyvinyl pyrrolidone Water-based precursor design Coated conductors

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冰岛东部最美小镇白日梦想家们的隐世仙境

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环球人文地理 2024年第13期 144-153页

作者：邓文倩 Vladimir marieagns Nataliya Fotokon Sen isabel Baldovi Marc Jedamus Kristina Ryan Unsplash 摄图网

冰岛东部峡湾，有一个小镇被群山、瀑布环绕，远离城市喧嚣，宛如被时间遗忘的世外桃源。在电影《白日梦想家》中，男主角沃尔特为了找到杂志新刊的底片，踏上了一段奇幻冒险旅程。他在影片里看似穿越了格陵兰岛、冰岛、尼泊尔、喜马拉...

冰岛东部峡湾，有一个小镇被群山、瀑布环绕，远离城市喧嚣，宛如被时间遗忘的世外桃源。在电影《白日梦想家》中，男主角沃尔特为了找到杂志新刊的底片，踏上了一段奇幻冒险旅程。他在影片里看似穿越了格陵兰岛、冰岛、尼泊尔、喜马拉雅山脉……但实际上整部电影的取景地全都在冰岛。影片最令人印象深刻的部分，大概是沃尔特用公仔和小孩子交换滑板后，在一条盘山公路上急速滑行。公路的尽头就是被LonelyPlanet评为“冰岛东部最美小镇”的塞济斯菲厄泽。

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